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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:IMAGAWA-MATSUMOTO SYNDROME
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Accession:DOID:9001800 term browser browse the term
Definition:A disease characterized by variable pre- and postnatal overgrowth; dysmorphic features including postnatal macrocephaly, prominent forehead, round face, hypertelorism, downslanting palpebral fissures, and low and broad nasal bridge; and variable musculoskeletal abnormalities.
Synonyms:exact_synonym: IMMAS
 primary_id: OMIM:618786
For additional species annotation, visit the Alliance of Genome Resources.



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IMAGAWA-MATSUMOTO SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Imagawa-Matsumoto syndrome OMIM
ClinVar
PMID:25741868 PMID:28229514 PMID:30019515 PMID:31736240 NCBI chr10:64,967,035...65,012,916
Ensembl chr10:64,966,967...65,012,738
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Neurodevelopmental Disorders 6102
        IMAGAWA-MATSUMOTO SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        central nervous system disease 11253
          brain disease 10538
            disease of mental health 7449
              Neurodevelopmental Disorders 6102
                IMAGAWA-MATSUMOTO SYNDROME 1
paths to the root